A systematic review of common genetic variation and biological pathways in autism spectrum disorder
Abstract Background Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe...
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| Format: | Article |
| Language: | English |
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BMC
2021-10-01
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| Series: | BMC Neuroscience |
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| Online Access: | https://doi.org/10.1186/s12868-021-00662-z |
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| author | Diego Alejandro Rodriguez-Gomez Danna Paola Garcia-Guaqueta Jesús David Charry-Sánchez Elias Sarquis-Buitrago Mariana Blanco Alberto Velez-van-Meerbeke Claudia Talero-Gutiérrez |
| author_facet | Diego Alejandro Rodriguez-Gomez Danna Paola Garcia-Guaqueta Jesús David Charry-Sánchez Elias Sarquis-Buitrago Mariana Blanco Alberto Velez-van-Meerbeke Claudia Talero-Gutiérrez |
| author_sort | Diego Alejandro Rodriguez-Gomez |
| collection | DOAJ |
| description | Abstract Background Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe the relationship between genetic variations and autism. We created a gene dataset of the genes involved in the pathogenesis of autism and performed an over-representation analysis to evaluate the biological functions and molecular pathways that may explain the associations between these variants and the development of ASD. Results 177 studies and a gene set composed of 139 were included in this qualitative systematic review. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction. Conclusions Among the biological processes that were examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly involved in the development of autism. |
| first_indexed | 2024-12-20T00:17:23Z |
| format | Article |
| id | doaj.art-e0386564e75c4862bf6f2cd5b9246633 |
| institution | Directory Open Access Journal |
| issn | 1471-2202 |
| language | English |
| last_indexed | 2024-12-20T00:17:23Z |
| publishDate | 2021-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neuroscience |
| spelling | doaj.art-e0386564e75c4862bf6f2cd5b92466332022-12-21T20:00:17ZengBMCBMC Neuroscience1471-22022021-10-0122111210.1186/s12868-021-00662-zA systematic review of common genetic variation and biological pathways in autism spectrum disorderDiego Alejandro Rodriguez-Gomez0Danna Paola Garcia-Guaqueta1Jesús David Charry-Sánchez2Elias Sarquis-Buitrago3Mariana Blanco4Alberto Velez-van-Meerbeke5Claudia Talero-Gutiérrez6Neuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioNeuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioNeuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioNeuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioNeuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioNeuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioNeuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del RosarioAbstract Background Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe the relationship between genetic variations and autism. We created a gene dataset of the genes involved in the pathogenesis of autism and performed an over-representation analysis to evaluate the biological functions and molecular pathways that may explain the associations between these variants and the development of ASD. Results 177 studies and a gene set composed of 139 were included in this qualitative systematic review. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction. Conclusions Among the biological processes that were examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly involved in the development of autism.https://doi.org/10.1186/s12868-021-00662-zAutism Spectrum DisorderPathophysiologyPolymorphismsGeneticsSynapsis |
| spellingShingle | Diego Alejandro Rodriguez-Gomez Danna Paola Garcia-Guaqueta Jesús David Charry-Sánchez Elias Sarquis-Buitrago Mariana Blanco Alberto Velez-van-Meerbeke Claudia Talero-Gutiérrez A systematic review of common genetic variation and biological pathways in autism spectrum disorder BMC Neuroscience Autism Spectrum Disorder Pathophysiology Polymorphisms Genetics Synapsis |
| title | A systematic review of common genetic variation and biological pathways in autism spectrum disorder |
| title_full | A systematic review of common genetic variation and biological pathways in autism spectrum disorder |
| title_fullStr | A systematic review of common genetic variation and biological pathways in autism spectrum disorder |
| title_full_unstemmed | A systematic review of common genetic variation and biological pathways in autism spectrum disorder |
| title_short | A systematic review of common genetic variation and biological pathways in autism spectrum disorder |
| title_sort | systematic review of common genetic variation and biological pathways in autism spectrum disorder |
| topic | Autism Spectrum Disorder Pathophysiology Polymorphisms Genetics Synapsis |
| url | https://doi.org/10.1186/s12868-021-00662-z |
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